Survey of Ophthalmology
Volume 51, Issue 1 , Pages 1-17 , January 2006

Mucopolysaccharidoses and the Eye

  • Jane L. Ashworth, FRCOphth, PhD

      Affiliations

    • Manchester Royal Eye Hospital, Manchester
    • Corresponding Author InformationReprint address: Jane Ashworth, Manchester Royal Eye Hospital, Oxford Road, Manchester M13 9WH, UK.
    • ,
  • Susmito Biswas, FRCOphth

      Affiliations

    • Manchester Royal Eye Hospital, Manchester
    • ,
  • Ed Wraith, FRCPCH

      Affiliations

    • Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, United Kingdom
    • ,
  • I. Chris Lloyd, FRCOphth

      Affiliations

    • Manchester Royal Eye Hospital, Manchester

References 

  1. Abraham FA, Yatziv S, Russell A, et al. A family with two siblings affected by Morquio syndrome (MPS IV). Electrophysiological and psychophysical findings in the visual system. Arch Ophthalmol. 1974;91:265–269
  2. Abraham FA, Yatziv S, Russell A, et al. Electrophysiological and psychophysical findings in Hunter syndrome. Arch Ophthalmol. 1974;91:181–186
  3. Aguirre G, Raber I, Yanoff M, et al. Reciprocal corneal transplantation fails to correct mucopolysaccharidosis VI corneal storage. Invest Ophthalmol Vis Sci. 1992;33:2702–2713
  4. Aguirre G, Stramm L, Haskins M. Feline mucopolysaccharidosis VI: General ocular and pigment epithelial pathology. Invest Ophthalmol Vis Sci. 1983;24:991–1007
  5. Akhtar S, Tullo A, Caterson B, et al. Clinical and morphological features including expression of betaig-h3 and keratan sulphate proteoglycans in Maroteaux-Lamy syndrome type B and in normal cornea. Br J Ophthalmol. 2002;86:147–151
  6. Alroy J, Haskins M, Birk DE. Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III and VI. Exp Eye Res. 1999;68:523–530
  7. Andria G, Del Giudice E, Reuser AJ. Atypical expression of beta-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities. Clin Genet. 1978;14:16–23
  8. Beck M, Cole G. Disc oedema in association with Hunter's syndrome: ocular histopathological findings. Br J Ophthalmol. 1984;68:590–594
  9. Beesley C, Moraitou M, Winchester B, et al. Sanfilippo B syndrome: molecular defects in Greek patients. Clin Genet. 2004;65:143–149
  10. Bergwerk KE, Falk RE, Glasgow BJ, et al. Corneal transplantation in a patient with mucopolysaccharidosis type VII (Sly disease). Ophthalmic Genet. 2000;21:17–20
  11. Berman ER. Diagnosis of metabolic eye disease by chemical analysis of serum, leukocytes and skin fibroblast tissue culture. Birth Defects Orig Artic Ser. 1976;12:15–51
  12. Bradbury JA, Martin L, Strachan IM. Acquired Brown's syndrome associated with Hurler-Scheie's syndrome. Br J Ophthalmol. 1989;73:305–308
  13. Breider MA, Shull RM, Constantopoulos G. Long-term effects of bone marrow transplantation in dogs with mucopolysaccharidosis I. Am J Pathol. 1989;134:677–692
  14. Burillon C, Pey C, Durand L. [Penetrating keratoplasty and corneal dystrophy in Scheie's] syndrome. J Fr Ophtalmol. 1989;12:561–568
  15. Cantor LB, Disseler JA, Wilson FM, et al. Glaucoma in the Maroteaux-Lamy syndrome. Am J Ophthalmol. 1989;15:426–430
  16. Caruso RC, Kaiser-Kupfer MI, Muenzer J, et al. Electroretinographic findings in the mucopolysaccharidoses. Ophthalmology. 1986;93:1612–1616
  17. Casanova FH, Adan CB, Allemann N, et al. Findings in the anterior segment on ultrasound biomicroscopy in Maroteaux-Lamy syndrome. Cornea. 2001;20:333–338
  18. Ceuterick C, Martin JJ, Libert J, et al. Sanfilippo A disease in the fetus—comparison with pre- and postnatal cases. Neuropadiatrie. 1980;11:176–185
  19. Chan CC, Green WR, Maumenee IH, Sack GH. Ocular ultrastructural studies of two cases of the Hurler syndrome (systemic mucopolysaccharidoses I-H). Ophthalmic Paediatr Genet. 1982;2:3–19
  20. Cleary MA, Wraith JE. The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Paediatr. 1995;84:337–339
  21. Collins ML, Traboulsi EI, Maumenee IH. Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses. Ophthalmology. 1990;97:1445–1449
  22. Daly TM, Ohlemiller KK, Roberts MS, et al. Prevention of systemic clinical disease in MPS VII mice following AAV-mediated neonatal gene transfer. Gene Ther. 2001;8:1291–1298
  23. Dangel ME, Tsou BH. Retinal involvement in Morquio's syndrome (MPS IV). Ann Ophthalmol. 1985;17:349–354
  24. Dawson G, Tsay GC. Chemical diagnosis of inborn lysosomal storage disorders involving the eye. Birth Defects Orig Artic Ser. 1976;12:1–13
  25. del Canho H, van den Bergh FA, Duran M, et al. [Type D Sanfilippo disease in an 8-year-old boy; a rare cause of mental retardation]. Ned Tijdschr Geneeskd. 1993;137:969–972
  26. Del Monte MA, Maumenee IH, Green WR, et al. Histopathology of Sanfilippo's syndrome. Arch Ophthalmol. 1983;101:1255–1262
  27. Delleman JW, de Jong PT. Pigment epithelial pattern dystrophy: a peripheral type. Br J Ophthalmol. 1985;69:754–757
  28. Ellinwood NM, Vite CH, Haskins ME, et al. Gene therapy for lysosomal storage diseases: the lessons and promise of animal models. J Gene Med. 2004;6:481–506
  29. Federico A, Capece G, Cecio A, et al. Sanfilippo B syndrome (MPS III B): case report with analysis of CSF mucopolysaccharides and conjunctival biopsy. J Neurol. 1981;225:77–83
  30. François J. Metabolic tapetoretinal degenerations. Surv Ophthalmol. 1982;26:293–333
  31. François J. Metabolic disorders and corneal changes. Dev Ophthalmol. 1981;4:1–69
  32. François J. Ocular manifestations of the mucopolysaccharidoses. Ophthalmologica. 1974;169:345–361
  33. Gardner RJ, Hay JR, et al. Hurlers syndrome with clear corneas. Lancet. 1974;2:845
  34. Ghosh M, McCulloch C. The Morquio syndrome—light and electron microscopic findings from two corneas. Can J Ophthalmol. 1974;9:445–452
  35. Gills JP, Hobson R, Hanley WB, McKusick VA. Electroretinography and fundus oculi findings in Hurler's disease and allied mucopolysaccharidoses. Arch Ophthalmol. 1965;74:596–603
  36. Girard B, Hoang-Xuan T, D'Hermies , et al. [Mucopolysaccharidosis type I, Hurler-Scheie phenotype with ocular involvement. Clinical and ultrastructural study]. J Fr Ophtalmol. 1994;17:286–295
  37. Goldberg MF, Duke JR. Ocular histopathology in Hunter's syndrome. Systemic mucopolysaccharidosis type II. Arch Ophthalmol. 1967;77:503–512
  38. Goldberg MF, Scott CI, McKusick VA. Hydrocephalus and papilledema in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Am J Ophthalmol. 1970;69:969–975
  39. Grupcheva CN, Craig JP, McGhee CN. In vivo microstructural analysis of the cornea in Scheie's syndrome. Cornea. 2003;22:76–79
  40. Gullingsrud EO, Krivit W, Summers CG. Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation. Longer follow-up. Ophthalmology. 1998;105:1099–1105
  41. Haskins M, Casal M, Ellinwood NM, et al. Animal models for mucopolysaccharidoses and their clinical relevance. Acta Paediatr. 2002;91(Suppl):88–97
  42. Haskins ME, Aguirre GD, Jezyk PF, et al. The pathology of the feline model of mucopolysaccharidosis I. Am J Pathol. 1983;112:27–36
  43. Haskins ME, Aguirre GD, Jezyk PF, et al. The pathology of the feline model of mucopolysaccharidosis VI. Am J Pathol. 1980;101:657–674
  44. Hennig AK, Levy B, Ogilvie JM, et al. Intravitreal gene therapy reduces lysosomal storage in specific areas of the CNS in mucopolysaccharidosis VII mice. J Neurosci. 2003;23:3302–3307
  45. Ho TT, Maguire AM, Aguirre GD, et al. Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI. J Gene Med. 2002;4:613–621
  46. Huang Y, Bron AJ, Meek KM, et al. Ultrastructural study of the cornea in a bone marrow-transplanted Hurler syndrome patient. Exp Eye Res. 1996;62:377–387
  47. Iwamoto M, Nawa Y, Maumenee IH, et al. Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A). Graefes Arch Clin Exp Ophthalmol. 1990;228:342–349
  48. Jensen OA, Pedersen C, Schwartz M, et al. Hurler/Scheie phenotype. Report of an inbred sibship with tapeto-retinal degeneration and electron-microscopie examination of the conjuctiva. Ophthalmologica. 1978;176:194–204
  49. Jensen OA, Pedersen C, Vestermark S, et al. The Hurler/Scheie phenotype in children from a consanguineous marriage: case report with electronmicroscopy of the conjunctiva and ERG. Metab Pediatr Ophthalmol. 1980;4:133–134
  50. Kaiden JS, et al. Angle closure in a patient with Hunter's syndrome. J Ocul Ther Surg. 1982;1:250
  51. Kakkis ED, Muenzer J, Tiller GE, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med. 2001;344:182–188
  52. Kamata Y, Okuyama T, Kosuga M, et al. Adenovirus-mediated gene therapy for corneal clouding in mice with mucopolysaccharidosis type VII. Mol Ther. 2001;4:307–312
  53. Kamata Y, Tanabe A, Kanaji A, et al. Long-term normalization in the central nervous system, ocular manifestations, and skeletal deformities by a single systemic adenovirus injection into neonatal mice with mucopolysaccharidosis VII. Gene Ther. 2003;10:406–414
  54. Käsmann-Kellner B, Weindler J, Pfau B, et al. Ocular changes in mucopolysaccharidosis IV A (Morquio A syndrome) and long-term results of perforating keratoplasty. Ophthalmologica. 1999;213:200–205
  55. Kenyon KR. Conjunctival biopsy for diagnosis of lysosomal disorders. Prog Clin Biol Res. 1982;82:103–122
  56. Kenyon KR. Ocular manifestations and pathology of systemic mucopolysaccharidoses. Birth Defects Orig Artic Ser. 1976;12:133–153
  57. Kenyon KR, Quigley HA, Hussels IE, et al. The systemic mucopolysaccharidoses. Ultrastructural and histochemical studies of conjunctiva and skin. Am J Ophthalmol. 1972;73:811–833
  58. Lalive d'Epinay S, Remé CE. [Congenital glaucoma in Hurler's syndrome and in Lowe's syndrome. Clinical and electron microscopy findings]. Adv Ophthalmol. 1978;36:80–89
  59. Lamberg SI, Stoolmiller AC. Glycosaminoglycans. A biochemical and clinical review. J Invest Dermatol. 1974;63:433–449
  60. Laver NM, Friedlander MH, McLean IW. Mild form of Maroteaux-Lamy syndrome: corneal histopathology and ultrastructure. Cornea. 1998;17:664–668
  61. Lavery MA, Green WR, Jabs EW, et al. Ocular histopathology and ultrastructure of Sanfilippo's syndrome, type III-B. Arch Ophthalmol. 1983;101:1263–1274
  62. Lazarus HS, Sly WS, Kyle JW, et al. Photoreceptor degeneration and altered distribution of interphotoreceptor matrix proteoglycans in the mucopolysaccharidosis VII mouse. Exp Eye Res. 1993;56:531–541
  63. Leighton SE, Papsin B, Vellodi A, et al. Disordered breathing during sleep in patients with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol. 2001;58:127–138
  64. Leung LS, Weinstein GW, Hobson RR. Further electroretinographic studies of patients with mucopolysaccharidoses. Birth Defects Orig Artic Ser. 1971;7:32–40
  65. Li T, Davidson BL. Phenotype correction in retinal pigment epithelium in murine mucopolysaccharidosis VII by adenovirus-mediated gene transfer. Proc Natl Acad Sci USA. 1995;92:7700–7704
  66. Lorincz AE. The mucopolysaccharidoses: advances in understanding and treatment. Pediatr Ann. 1978;7:104–122
  67. Lowry RB, Applegarth DA, Toone JR, et al. An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet. 1990;85:389–390
  68. Maumenee IH. Vitreoretinal degeneration as a sign of generalized connective tissue diseases. Am J Ophthalmol. 1979;88:432–449
  69. McDonnell JM, Green WR, Maumenee IH. Ocular histopathology of systemic mucopolysaccharidosis, type II-A (Hunter syndrome, severe). Ophthalmology. 1985;92:1772–1779
  70. Mohan UR, Hay AA, Cleary MA, et al. Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr. 2002;91:799–804
  71. Mollard RJ, Telegan P, Haskins M, et al. Corneal endothelium in mucopolysaccharide storage disorders. Morphologic studies in animal models. Cornea. 1996;15:25–34
  72. Montano AM, Kaitila I, Sukegawa K, et al. Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype. Hum Genet. 2003;113:162–169
  73. Moores C, Rogers JG, McKenzie IM, et al. Anaesthesia for children with mucopolysaccharidoses. Anaesth Intensive Care. 1996;24:459–463
  74. Mullaney P, Awad AH, Millar L. Glaucoma in mucopolysaccharidosis 1-H/S. J Pediatr Ophthalmol Strabismus. 1996;33:127–131
  75. Myer CM. Airway obstruction in Hurler's syndrome. Int J Pediatr Otorhinolaryngol. 1991;22:91–96
  76. Narita AS, Russell-Eggitt I. Bilateral epiretinal membranes: a new finding in Hunter syndrome. Ophthalmic Genet. 1996;17:75–78
  77. Natowicz MR, Short MP, Wang Y, et al. Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med. 1996;335:1029–1033
  78. Naumann G. Clearing of cornea after perforating keratoplasty in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). N Engl J Med. 1985;312:995
  79. Naumann GO, Rummelt V. [Clearing of the para-transplant host cornea after perforating keratoplasty in Maroteaux-Lamy syndrome (type VI-A mucopolysaccharidosis)]. Klin Monatsbl Augenheilkd. 1993;203:351–360
  80. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In:  Scriver CR,  Beaudet AL,  Sly WS,  Valle D editor. The Metabolic and Molecular Bases of Inherited Disease. Vol 8:New York: The McGraw-Hill Companies, Inc; 2001;p. 3421–3452
  81. Northover H, Cowie RA, Wraith JE. Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review. J Inherit Metab Dis. 1996;19:357–365
  82. Nowaczyk MJ, Clarke JT, Morin JD. Glaucoma as an early complication of Hurler's disease. Arch Dis Child. 1988;63:1091–1093
  83. Ohlemiller KK, Vogler CA, Roberts M, et al. Retinal function is improved in a murine model of a lysosomal storage disease following bone marrow transplantation. Exp Eye Res. 2000;71:469–481
  84. Olsen H, Baggesen K, Sjolie AK. Cataracts in Morquio syndrome (mucopolysaccharidosis IV A). Ophthalmic Paediatr Genet. 1993;14:87–89
  85. Orgül S, Daicker B, Kain HL. [Simultaneous corneal transplantation in mucopolysaccharidosis]. Klin Monatsbl Augenheilkd. 1991;198:430–432
  86. Peters C, Shapiro EG, Anderson J, et al. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood. 1998;91:2601–2608
  87. Ponder KP, Melniczek JR, Xu L, et al. Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs. Proc Natl Acad Sci USA. 2002;99:13102–13107
  88. Quantock AJ, Meek KM, Fullwood NJ, et al. Scheie's syndrome: the architecture of corneal collagen and distribution of corneal proteoglycans. Can J Ophthalmol. 1993;28:266–272
  89. Quigley HA, Kenyon KR. Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis. (Maroteaux-Lamy syndrome, mild phenotype). Am J Ophthalmol. 1974;77:809–818
  90. Quigley HA, Kenyon KR. Russell bodies and plasma cells in human conjunctiva. Am J Ophthalmol. 1973;76:957–966
  91. Quigley HA, Maumenee AE, Stark WJ. Acute glaucoma in systemic mucopolysaccharidosis I-S. Am J Ophthalmol. 1975;80:70–72
  92. Rawe IM, Leonard DW, Meek KM, et al. X-ray diffraction and transmission electron microscopy of Morquio syndrome type A cornea: a structural analysis. Cornea. 1997;16:369–376
  93. Rosen DA, Haust MD, Yamashita T, et al. Keratoplasty and electron microscopy of the cornea in systemic mucopolysaccharidosis (Hurler's disease). Can J Ophthalmol. 1968;3:218–230
  94. Rummelt V, Meyer HJ, Naumann GO. Light and electron microscopy of the cornea in systemic mucopolysaccharidosis type I-S (Scheie's syndrome). Cornea. 1992;11:86–92
  95. Sands MS, Wolfe JH, Birkenmeier EH, et al. Gene therapy for murine mucopolysaccharidosis type VII. Neuromuscul Disord. 1997;7:352–360
  96. Sato S, Maeda N, Watanabe H, et al. Multiple iridociliary cysts in patients with mucopolysaccharidoses. Br J Ophthalmol. 2002;86:933–934
  97. Scheie HC, Hambrick GW. A newly recognized forme fruste of Hurler's disease (Gargoylism). Am J Ophthalmol. 1962;53:753–769
  98. Schwartz MF, Werblin TP, Green WR. Occurrence of mucopolysaccharide in corneal grafts in the Maroteaux-Lamy syndrome. Cornea. 1985;4:58–66
  99. Shigematsu Y, Hori C, Nakai A, et al. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) with hearing impairment and pupillary membrane remnants. Acta Paediatr Jpn. 1991;33:476–481
  100. Spellacy E, Bankes JL, Crow J, et al. Glaucoma in a case of Hurler disease. Br J Ophthalmol. 1980;64:773–778
  101. Spellacy E, Shull RM, Constantopoulos G, et al. A canine model of human alpha-L-iduronidase deficiency. Proc Natl Acad Sci USA. 1983;80:6091–6095
  102. Spranger J, Cantz M, Gehler J, et al. Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrum. Eur J Pediatr. 1978;129:11–16
  103. Stramm L, Haskins M, Desnick RJ, et al. Disease expression in cultured pigment epithelium. Feline mucopolysaccharidosis VI. Invest Ophthalmol Vis Sci. 1985;26:182–192
  104. Stramm LE, Desnick RJ, Haskins ME, et al. Arylsulfatase B activity in cultured retinal pigment epithelium: regional studies in feline mucopolysaccharidosis VI. Invest Ophthalmol Vis Sci. 1986;27:1050–1057
  105. Stürmer J. [Type VI-A mucopolysaccharidosis (Maroteaux-Lamy disease). Clinico-pathologic case report]. Klin Monatsbl Augenheilkd. 1989;194:273–281
  106. Sugar J. Metabolic disorders of the cornea. In:  Kaufman HE,  Barron BA,  McDonald MB editor. The Cornea. 2nd ed. Oxford: Butterworth-Heinemann; 1997;p. 391–410
  107. Summers CG, Purple RL, Krivit W, et al. Ocular changes in the mucopolysaccharidoses after bone marrow transplantation. A preliminary report. Ophthalmology. 1989;96:977–984discussion 984–5
  108. Süveges I. Ocular symptoms and histopathology in mucopolysaccharidoses. Bull Soc Belge Ophtalmol. 1987;224:23–25
  109. Süveges I. Histological and ultrastructural studies of the cornea in Maroteaux-Lamy syndrome. Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1979;212:29–39
  110. Tabone E, Grimaud JA, Peyrol S, et al. Ultrastructural aspects of corneal fibrous tissue in the Scheie syndrome. Virchows Arch B Cell Pathol. 1978;27:63–67
  111. Terlato NJ, Cox GF. Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. Genet Med. 2003;5:286–294
  112. Tomatsu S, Dieter T, Schwartz IV, et al. Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. J Hum Genet. 2004;49:490–494
  113. Tomatsu S, Filocamo M, Orii KO, et al. Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients. Hum Mutat. 2004;24:187–188
  114. Topping TM, Kenyon KR, Goldberg MF, Maumenee AE. Ultrastructural ocular pathology of Hunters syndrome. Systemic mucopolysaccharidosis type II. Arch Ophthalmol. 1971;86:164–177
  115. Traboulsi EI, Maumenee IH. Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). Am J Ophthalmol. 1986;102:592–597
  116. Tremblay M, Dube I, Gagne R. [Corneal changes in Scheie disease. (Mucopolysaccharidosis type I S) (author's transl)]. J Fr Ophtalmol. 1979;2:193–197
  117. Uçakhan OO, Brodie SE, Desnick R, et al. Long-term follow-up of corneal graft survival following bone marrow transplantation in the Maroteaux-Lamy syndrome. CLAO J. 2001;27:234–237
  118. Usui T, Shirakashi M, Takagi M, et al. Macular edema-like change and pseudopapilledema in a case of Scheie syndrome. J Clin Neuroophthalmol. 1991;11:183–185
  119. Varssano D, Cohen EJ, Nelson LB, et al. Corneal transplantation in Maroteaux-Lamy syndrome. Arch Ophthalmol. 1997;115:428–429
  120. Vellodi A, Young E, Cooper A, et al. Long-term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis. 1999;22:638–648
  121. Vellodi A, Young EP, Cooper A, et al. Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Arch Dis Child. 1997;76:92–99
  122. Verdugo ME, Scarpino V, Moullier P, et al. Adenoviral vector-mediated beta-glucuronidase cDNA transfer to treat MPS VII RPE in vitro. Curr Eye Res. 2001;23:357–367
  123. Viestenz A, Shin YS, Viestenz A, et al. [Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. Klin Monatsbl Augenheilkd. 2002;219:745–748
  124. Vine AK. Uveal effusion in Hunter's syndrome. Evidence that abnormal sclera is responsible for the uveal effusion syndrome. Retina. 1986;6:57–60
  125. Vogel MH, Müller KM, Witting C. Ocular histopathology in mucopolysaccharidosis 3 (Sanfilippo). Ophthalmologica. 1974;169:311–319
  126. Walker RW, Darowski M, Morris P, et al. Anaesthesia and mucopolysaccharidoses. A review of airway problems in children. Anaesthesia. 1994;49:1078–1084
  127. Wolfe JH, Taylor RM, Sands MS, et al. Mucopolysaccharidosis type VII as a model system for gene transfer to the central nervous system. Gene Ther. 1994;1(Suppl 1):S55
  128. Wraith JE. Lysosomal disorders. Semin Neonatol. 2002;7:75–83
  129. Wraith JE. Enzyme replacement therapy in mucopolysaccharidosis type I: progress and emerging difficulties. J Inherit Metab Dis. 2001;24:245–250
  130. Wraith JE. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child. 1995;72:263–267
  131. Yamano T, Shimada M, Okada S, et al. Electron microscopic examination of skin and conjunctival biopsy specimens in neuronal storage diseases. Brain Dev. 1979;1:16–25
  132. Yoshida M, Ikadai H, Maekawa A, et al. Pathological characteristics of mucopolysaccharidosis VI in the rat. J Comp Pathol. 1993;109:141–153
  133. Zabel RW, MacDonald IM, Mintsioulis G, et al. Scheie's syndrome. An ultrastructural analysis of the cornea. Ophthalmology. 1989;96:1631–1638

 The authors reported no proprietary or commercial interest in any product mentioned or concept discussed in this article. The authors would like to acknowledge the Ophthalmic Illustration Department of the Manchester Royal Eye Hospital for help with the illustrations, and Mr Andrew Tullo, consultant ophthalmologist, and Dr Richard Boshek, ophthalmic pathologist, Manchester Royal Eye Hospital, for the histology illustrations.

PII: S0039-6257(05)00198-0

doi: 10.1016/j.survophthal.2005.11.007

Survey of Ophthalmology
Volume 51, Issue 1 , Pages 1-17 , January 2006

Article Tools

* Image Usage & Resolution